平成28年度 医学研セミナー

Genome structure: capturing the link between phenotype and genotype

− この都医学研セミナーは終了しました。 −

演者 Justin M. O’Sullivan博士
Liggins institute, University of Auckland, Grafton, Auckland 1032, New Zealand.
会場 東京都医学総合研究所 会議室2BC
日時 平成28年7月21日(木)16:00~17:00
世話人 正井久雄 副所長 (ゲノム動態プロジェクトリーダー)
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In eukaryotes, the nucleus is the environment within which genome biology is realized. However, understanding genome biology requires the spatio-temporal linking of: 1) the linear organization of the DNA; 2) the epigenome; and 3) the composition of the regulome. While seemingly obvious, such a linkage requires the determination of the inter-relationships within and across biological scales. Given that the spatial relationships reflect both the linear positions on the chromosomes and the nuclear functions that are active at the time of sampling, it is likely that spatial information is the key to decoding genome biology. We combined SNPs, spatial and functional (gene expression, expression Quantitative Trait Loci) data to identify how non-genic loci associated with infant length, pubertal and adult height contribute to gene regulatory networks. Functional assays provide further evidence for enhancer activity at selected sites. Moreover, we demonstrate that developmental time courses further help to understand the complexity surrounding the functional association of human genetic variation with multi-genic diseases. We contend that our approach will be applicable to the identification of novel targets and prediction of therapeutic responses as we move into the precision medicine era.